PAGOD syndrome

Other Names: Pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia; Kennerknecht Sorgo Oberhoffer syndrome; Agonadism with multiple internal malformations; Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome

PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.

Epidemiology

Since the first publication in 1991, only 11 patients have been described.

Cause

Cause is unknown but vitamin A deficiency has been suggested to play a role in the development of the syndrome.

Inheritance

Autosomal recessive inheritance, a 25% chance

Almost all cases are sporadic, except for 2 siblings, suggesting autosomal recessive inheritance.

Signs and symptoms

Neonates with PAGOD syndrome present with several visceral anomalies: hypoplasia of right or left lung, diaphragmatic hernia, omphalocele, various cardiac anomalies including, amongst others, atrial septal defect, left ventricular hypoplasia or ventricular septal defect, and great vessels anomalies such as aortic hypoplasia and pulmonary artery hypoplasia or atresia. Cardiac and mediastinal structures may be in dextroposition. Ambiguous external genitalia can be observed in some cases and all patients present gonadal agenesis or hypoplasia and developmental anomalies of Wolffian and Mullerian duct structures.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Pulmonary artery hypoplasia(Underdeveloped lung artery)
• Pulmonary hypoplasia(Small lung)

30%-79% of people have these symptoms

• Abnormal testis morphology(Abnormality of the testis)
• Abnormality of the uterus(Uterine abnormalities)
• Agonadism
• Ambiguous genitalia(Ambiguous external genitalia)
• Congenital diaphragmatic hernia
• Death in infancy(Infantile death)
• Female pseudohermaphroditism
• Hypoplastic left heart(Underdeveloped left heart)
• Multicystic kidney dysplasia
• Omphalocele
• Renal hypoplasia/aplasia(Absent/small kidney)

5%-29% of people have these symptoms

• Abnormal aortic morphology
• Abnormality of neuronal migration
• Abnormality of the clavicle(Abnormal collarbone)
• Abnormality of the ribs(Rib abnormalities)
• Abnormality of the spleen
• Asymmetric growth(Uneven or disproportionate growth of one body part compared to another)
• Encephalocele
• Meningocele
• Microcephaly(Abnormally small skull)
• Optic atrophy
• Short stature(Decreased body height)
• Situs inversus totalis(All organs on wrong side of body)
• Sudden cardiac death(Premature sudden cardiac death)

Prognosis

Life expectancy is reduced due to cardiac and respiratory complications.

NIH genetic and rare disease info

• NIH info on PAGOD syndrome

PAGOD syndrome is a rare disease.